HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766050C>G , CM000674.2:g.57766050C>G | GRCh38 |
NC_000012.11:g.58159833C>G , CM000674.1:g.58159833C>G | GRCh37 |
NC_000012.10:g.56446100C>G | NCBI36 |
NG_007076.1:g.6144G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.255G>C | ||
ENST00000713544.1:c.343G>C | ENSP00000518840.1:p.Glu115Gln | |
ENST00000713545.1:c.343G>C | ENSP00000518841.1:p.Glu115Gln | |
ENST00000228606.9:c.343G>C MANE Select | ENSP00000228606.4:p.Glu115Gln | |
ENST00000228606.8:c.343G>C | ENSP00000228606.4:p.Glu115Gln | |
ENST00000546496.1:n.171G>C | ||
ENST00000546609.1:c.255G>C | ||
ENST00000547344.5:n.397G>C | ||
ENST00000552186.1:n.462G>C | ||
NM_000785.3:c.343G>C | NP_000776.1:p.Glu115Gln | |
NM_000785.4:c.343G>C MANE Select | NP_000776.1:p.Glu115Gln |